Abstract

ASENSIO SANCHEZ, VM; CORRAL AZOR, A; BARTOLOME ARAGON, A  and  PAZ GARCIA, M. de. Renal-coloboma syndrome . Arch Soc Esp Oftalmol [online]. 2002, vol.77, n.11, pp.635-637. ISSN 0365-6691.

Case report: We describe a woman with optic disc pit and bilateral renal hypoplasia as a papillorenal syndrome. DNA analysis for PAX2 mutations revealed a heterozygous mutation (nucleotide 619 in exon 9). A first uncle and a cousin had the same PAX2 mutation. Discussion: The association of optic nerve colobomas and renal anomalies comprises a autosomal dominant syndrome for mutations in the PAX2 gene. Ophthalmic and renal diseases are highly variable; the ophthalmologist must check for a renal problem when a coloboma is detected.

Keywords : PAX2 gen; kidney; retina.